Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 28 0.12 1 3.2E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 18 0.11 1 4.2E-02
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 11 0.11 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 11 0.11 2 6.9E-02
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 10 0.11 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 8 0.10 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 9 0.10 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 18 0.10 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 10 0.10 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 11 0.10 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 10 9.9E-02 0 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		28 0 9 9.7E-02 0 0
CUI: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 9.5E-02 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 7 9.5E-02 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 7 9.5E-02 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 7 9.5E-02 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 19 9.4E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 8 13 9.3E-02 1 5.3E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 9 13 9.2E-02 1 5.0E-02
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 9.2E-02 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 7 9.2E-02 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 7 9.1E-02 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 9 9.1E-02 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 7 9.1E-02 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 9.0E-02 0 0